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    PYGL glycogen phosphorylase L [ Homo sapiens (human) ]

    Gene ID: 5836, updated on 22-Apr-2017
    Official Symbol
    PYGLprovided by HGNC
    Official Full Name
    glycogen phosphorylase Lprovided by HGNC
    Primary source
    HGNC:HGNC:9725
    See related
    Ensembl:ENSG00000100504 MIM:613741; Vega:OTTHUMG00000166596
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GSD6
    Summary
    This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2011]
    Orthologs
    Location:
    14q22.1
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 14 NC_000014.9 (50905217..50944530, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (51371935..51411248, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370491 Neighboring gene abhydrolase domain containing 12B Neighboring gene mitochondrial ribosomal protein L57 pseudogene 9 Neighboring gene uncharacterized LOC105370492 Neighboring gene uncharacterized LOC400212 Neighboring gene tripartite motif containing 9

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Glycogen storage disease, type VI Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association study identifies germline polymorphisms associated with relapse of childhood acute lymphoblastic leukemia.
    NHGRI GWA Catalog
    Genome-wide association study of atypical psychosis.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify glycogen phosphorylase of liver (PYGL), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify glycogen phosphorylase of liver (PYGL), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Nef nef Tandem affinity purification and mass spectrometry analysis identify glycogen phosphorylase of liver (PYGL), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify glycogen phosphorylase of liver (PYGL), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed

    Go to the HIV-1, Human Interaction Database

    • Glucagon signaling pathway, organism-specific biosystem (from KEGG)
      Glucagon signaling pathway, organism-specific biosystemGlucagon is conventionally regarded as a counterregulatory hormone for insulin and plays a critical anti-hypoglycemic role by maintaining glucose homeostasis in both animals and humans. To increase ...
    • Glucagon signaling pathway, conserved biosystem (from KEGG)
      Glucagon signaling pathway, conserved biosystemGlucagon is conventionally regarded as a counterregulatory hormone for insulin and plays a critical anti-hypoglycemic role by maintaining glucose homeostasis in both animals and humans. To increase ...
    • Glucose metabolism, organism-specific biosystem (from REACTOME)
      Glucose metabolism, organism-specific biosystemGlucose is the major form in which dietary sugars are made available to cells of the human body. Its breakdown is a major source of energy for all cells, and is essential for the brain and red blood ...
    • Glycogen Metabolism, organism-specific biosystem (from WikiPathways)
      Glycogen Metabolism, organism-specific biosystemGlycogen is a very large, branched polymer of glucose residues. Within skeletal muscle and liver glucose is stored as glycogen. In the liver, glycogen synthesis and degradation are regulated to maint...
    • Glycogen breakdown (glycogenolysis), organism-specific biosystem (from REACTOME)
      Glycogen breakdown (glycogenolysis), organism-specific biosystemCytosolic glycogen breakdown occurs via the same chemical steps in all tissues but is separately regulated via tissue specific isozymes and signaling pathways that enable distinct physiological fates...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Insulin resistance, organism-specific biosystem (from KEGG)
      Insulin resistance, organism-specific biosystemInsulin resistance is a condition where cells become resistant to the effects of insulin. It is often found in people with health disorders, including obesity, type 2 diabetes mellitus, non-alcoholic...
    • Insulin signaling pathway, organism-specific biosystem (from KEGG)
      Insulin signaling pathway, organism-specific biosystemInsulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the r...
    • Insulin signaling pathway, conserved biosystem (from KEGG)
      Insulin signaling pathway, conserved biosystemInsulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the r...
    • Metabolic pathways, organism-specific biosystem (from KEGG)
      Metabolic pathways, organism-specific biosystem
      Metabolic pathways
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
      Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
    • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
      Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
    • Starch and sucrose metabolism, organism-specific biosystem (from KEGG)
      Starch and sucrose metabolism, organism-specific biosystem
      Starch and sucrose metabolism
    • Starch and sucrose metabolism, conserved biosystem (from KEGG)
      Starch and sucrose metabolism, conserved biosystem
      Starch and sucrose metabolism
    • TNF alpha Signaling Pathway, organism-specific biosystem (from WikiPathways)
      TNF alpha Signaling Pathway, organism-specific biosystemTumor necrosis factor alpha (TNF?) is a proinflammatory cytokine involved in various biological processes including regulation of cell proliferation, differentiation, apoptosis and immune response. T...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    AMP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ATP binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    bile acid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    drug binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glucose binding NAS
    Non-traceable Author Statement
    more info
    PubMed 
    glycogen phosphorylase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    glycogen phosphorylase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glycogen phosphorylase activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein homodimerization activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    purine nucleobase binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    pyridoxal phosphate binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    vitamin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    5-phosphoribose 1-diphosphate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    glucose homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    glycogen catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    glycogen catabolic process TAS
    Traceable Author Statement
    more info
     
    glycogen metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    necroptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cytosol TAS
    Traceable Author Statement
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular region TAS
    Traceable Author Statement
    more info
     
    ficolin-1-rich granule lumen TAS
    Traceable Author Statement
    more info
     
    secretory granule lumen TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    glycogen phosphorylase, liver form
    Names
    phosphorylase, glycogen, liver
    NP_001157412.1
    NP_002854.3

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012796.1 RefSeqGene

      Range
      5001..44314
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001163940.1NP_001157412.1  glycogen phosphorylase, liver form isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks in an in-frame exon in the 5' coding region, compared to variant 1, which results in a shorter isoform (2), compared to isoform 1.
      Source sequence(s)
      AA523002, BC095850, DA287767
      Consensus CDS
      CCDS53894.1
      UniProtKB/Swiss-Prot
      P06737
      Related
      ENSP00000443787.1, OTTHUMP00000233650, ENST00000544180.6, OTTHUMT00000390653
      Conserved Domains (2) summary
      cd04300
      Location:29794
      GT1_Glycogen_Phosphorylase; This is a family of oligosaccharide phosphorylases. It includes yeast and mammalian glycogen phosphorylases, plant starch/glucan phosphorylase, as well as the maltodextrin phosphorylases of bacteria. The members of this family catalyze the breakdown of ...
      TIGR02093
      Location:32794
      P_ylase; glycogen/starch/alpha-glucan phosphorylases
    2. NM_002863.4NP_002854.3  glycogen phosphorylase, liver form isoform 1

      See identical proteins and their annotated locations for NP_002854.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AA523002, BC095850, DA287767
      Consensus CDS
      CCDS32080.1
      UniProtKB/Swiss-Prot
      P06737
      Related
      ENSP00000216392.7, OTTHUMP00000233651, ENST00000216392.7, OTTHUMT00000390654
      Conserved Domains (2) summary
      cd04300
      Location:29828
      GT1_Glycogen_Phosphorylase; This is a family of oligosaccharide phosphorylases. It includes yeast and mammalian glycogen phosphorylases, plant starch/glucan phosphorylase, as well as the maltodextrin phosphorylases of bacteria. The members of this family catalyze the breakdown of ...
      TIGR02093
      Location:32828
      P_ylase; glycogen/starch/alpha-glucan phosphorylases

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p7 Primary Assembly

      Range
      50905217..50944530 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018925.2 Alternate CHM1_1.1

      Range
      51310446..51349770 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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